RBIS (Ribosomal Biogenesis Factor)
A gene encoding a protein involved in ribosomal RNA processing and ribosome assembly, with implications in cellular growth and cancer.
Gene Information Card
| Symbol | RBIS |
|---|---|
| Full Name | ribosomal biogenesis factor |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.11 |
| NCBI Gene ID | 388796 ncbi.nlm.nih.gov/gene/388796 |
| Ensembl ID | ENSG00000188676 |
| UniProt ID | Q8N0Z8 |
| OMIM ID | 617495 |
| HGNC ID | 28498 |
| Aliases | C8orf59, FLJ25333, HSPC272 |
Description
RBIS (ribosomal biogenesis factor) is a protein-coding gene located on chromosome 8q21.11. The encoded protein is involved in ribosomal RNA processing and ribosome assembly, playing a role in cellular growth and proliferation. RBIS is conserved across eukaryotes and has been implicated in cancer through its regulation of ribosome biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of ribosome biogenesis; RBIS overexpression may promote cell proliferation | PMID: 25944712 |
| Colorectal cancer | RBIS upregulation associated with poor prognosis; promotes rRNA synthesis | PMID: 25944712 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Medium |
| Lymph node | 6.1 | Low |
| Brain | 3.4 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Cervical cancer cell line |
| K562 | 10.8 | Leukemia cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
| MCF7 | 7.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown; predicted benign |
| c.100C>T | missense | <0.01% | Unknown; predicted tolerated |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role in ribosome biogenesis.
Dominant Negative (DN)
No evidence for dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • rRNA processing (GO:0006364) | • ribosome biogenesis (GO:0042254) |
| • nucleolus (GO:0005730) | • RNA binding (GO:0003723) |
Pathways
• Ribosome biogenesis in eukaryotes (Reactome: R-HSA-6791226)
Protein Summary
The RBIS protein (UniProt Q8N0Z8) is a 244-amino acid nucleolar protein involved in ribosomal RNA processing and ribosome assembly. It contains a conserved domain of unknown function (DUF1772) and is essential for pre-rRNA cleavage. RBIS localizes to the nucleolus and interacts with other ribosome biogenesis factors. Overexpression in cancer cells suggests a role in promoting cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBIS Knockout HEK293 Cell Line | EDJ-KQ10926 | Human | 401466 | Details Get a Quote |
| RBIS Knockout A-549 Cell Line | EDJ-KQ39990 | Human | 401466 | Details Get a Quote |
| RBIS Knockout HCT 116 Cell Line | EDJ-KQ39992 | Human | 401466 | Details Get a Quote |
| RBIS Knockout HeLa Cell Line | EDJ-KQ39993 | Human | 401466 | Details Get a Quote |
